目的 探讨以硬化性胆管炎（SC）为首发表现的儿童朗格汉斯细胞组织细胞增多症（LCH）的临床特点，以提高对儿童肝脏受累LCH的认识。方法 2018年10月至2021年12月初步诊断为SC，其后确诊为LCH的病例进行回顾性分析，总结临床表现、实验室检查、影像学检查、诊治经过及预后。结果 以SC为首发表现的LCH患儿6例。女∶男=5∶1。中位发病年龄为12（12~22）个月。6例患儿均以胆汁淤积为首发表现，表现为以γ-谷氨酰转肽酶和直接胆红素升高为主的肝功能异常。磁共振胰胆管成像均呈现局灶性肝内胆管狭窄和扩张，影像学诊断为SC。5例通过皮疹组织免疫组化染色确诊LCH，其中4例表现为SC同时伴有皮疹；1例仅表现为SC，其后近2个月出现皮疹增多并获得组织学诊断依据。1例表现为SC同时伴垂体受累所致的尿崩症，2次肝穿活检仅提示结节性肝硬化。肝移植术后肝大体组织免疫组化染色确诊LCH。6例病理诊断LCH后予LCH一线方案化疗。1例肝移植后进行化疗及对症治疗，全身病情获得缓解；4例至随诊结束全身病情较前好转，但肝脏影像学检查无明显改善；1例发生肝衰竭死亡。结论 SC是LCH肝脏受累的一种晚期及严重形式，可伴或不伴其他组织器官病变。诊断需结合特征性皮疹、溶骨性改变及垂体等组织受累表现，并获得病理诊断依据。LCH所致SC预后较差。SC如合并肝硬化，尤其伴有门静脉高压、顽固性皮肤瘙痒或生长发育迟缓，可考虑先进行肝移植，术后再进行化疗可能是获得较好预后的一种治疗方法。

Objective To explore the clinical features of Langerhans cell histiocytosis (LCH) with sclerosing cholangitis (SC) as the first manifestation, aiming to enhance the understanding of LCH in children with liver involvement. Methods Cases in the electronic medical record system of Guangzhou Women and Children’s Medical Center who were diagnosed with SC at the first visit and subsequently diagnosed with LCH were retrospectively analyzed. The clinical manifestations, lab examination, imaging, treatment process, and prognosis were summarized. Results There were six cases of LCH with SC as the first manifestation. The female-to-male ratio was 5:1, and the median age was 12 months (ranging from 12 to 22 months). All six patients present cholestasis as the first manifestation, which was characterized by abnormalities in liver function, mainly elevated γ-glutamyl transpeptidase and direct bilirubin levels. Their magnetic resonance cholangiopancreatography (MRCP) showed focal intrahepatic bile duct stenosis and dilatation, leading to the radiological diagnosis of SC. Five cases were diagnosed with LCH after immunohistochemical staining of the skin rash tissue, four of which presented with SC accompanied by skin rash; one case had SC alone, and the diagnosis was confirmed by a tissue biopsy of skin rash that developed over following two months. One presented with SC accompanied by diabetes insipidus caused by pituitary involvement, whose 2 Liver puncture biopsies only showed nodular cirrhosis, and LCH was confirmed by immunohistochemical staining of liver mass tissue after liver transplantation. Six cases received first-line chemotherapy protocol after LCH diagnosis. One showed systemic remission after liver transplantation with chemotherapy and symptomatic treatment. Four showed improvement in systemic condition but no significant improvement in the liver imaging examinations at the end of the follow-up. One died of liver failure. Conclusions SC is one of the advanced and severe form of LCH liver involvement, with or without other tissue and organ lesions. Diagnosis requires a combination of characteristic skin rash, osteolytic changes, and tissue involvement such as pituitary gland, as well as a pathological diagnosis.The prognosis of SC due to LCH is poor. SC in combination with cirrhosis, especially with portal hypertension, intractable itching of the skin, or growth retardation, may be considered for liver transplantation, and chemotherapy may be a therapeutic approach with a better prognosis after the operation.